Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

@article{Dauwerse2016AnalysisOM,
  title={Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS},
  author={Johannnes G Dauwerse and Martine J van Belzen and Arie van Haeringen and Gijs van Santen and Christian van de Lans and Elisa Rahikkala and Livia Garavelli and Martijn H. Breuning and Raoul C.M Hennekam and Dorien Peters},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={1639-1643}
}
Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of CREBBP. Mutations at different positions within the same intron20 splice donor site were observed in three patients clinically suspected as having Rubinstein-Taybi syndrome (RSTS). All mutations were de… CONTINUE READING